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Other sex chromosome abnormalities, male phenotype, not elsewhere classified

Endpoint Browser PheWeb

Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_MALE_PHENOT_NOT_ELSEW_CLASSIFIED

Endpoint definition

↥

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

only males

226837

2. Check conditions

None

226837

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — Q98
  • Cause of death: ICD-10 — Q98

2 out of 7 registries used, show all original rules.

122

4. Check minimum number of events

None

122

5. Include endpoints

None

122

6. Filter based on genotype QC (FinnGen only)

122

Control definitions (FinnGen only)

Control exclude
Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF12
Parent code in ICD-10
Q9
Name in latin
Aliae abnormitates chromosomatum sexualium patientis phaenotypo masculini non alibi classificatae

Case counts by codes

↥

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 122 - 122
Unadjusted period prevalence (%) 0.05 - 0.05
Median age at first event (years) 28.30 - 28.30

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

↥

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
112
Matched controls
1121
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q98.0
ICD-10 Finland
Klinefelter syndrome karyotype 47,XXY
+∞
81.5
68
*
121
Kela drug reimbursment
Severe hypofunction of sexual glands
428.5
53.0
49
*
Q98.4
ICD-10 Finland
Klinefelter syndrome, unspecified
+∞
46.1
41
*
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
31.2
42.0
58
37
Q98.5
ICD-10 Finland
Karyotype 47,XYY
+∞
21.5
20
*
Z31.5
ICD-10 Finland
Genetic counselling
12.5
18.7
35
39
N46
ICD-10 Finland
Male infertility
16.5
17.4
28
22
E29.1
ICD-10 Finland
Testicular hypofunction
26.6
14.8
20
9
Q98.8
ICD-10 Finland
Other specified sex chromosome abnormalities, male phenotype
+∞
13.8
13
*
Q98.6
ICD-10 Finland
Male with structurally abnormal sex chromosome
+∞
10.6
10
*
Y28
ICPC
Limited function/disability (Y)
30.2
8.7
11
*
KFB01
NOMESCO Finland
Microscope-assisted testicular biopsy for assisted reproduction treatments
+∞
8.4
8
*
T28
ICPC
Limited function/disability (T)
48.5
7.8
9
*
L02BG04
ATC
letrozole; oral
27.2
7.7
10
*
WYA30
NOMESCO Finland
Preparations for expected poor cooperation
5.0
6.3
20
47
Q98.1
ICD-10 Finland
Klinefelter syndrome, male with more than two X chromosomes
+∞
6.3
6
*

LabWAS

↥
OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
77
172
10.43
38.81
5.7
2.5
13.1
16.1
nmol/l
2.84
71
163
40
57
9.95
28.64
3.0
1.5
12.4
3.7
u/l
4.27
30
46
26
30
10.74
21.48
2.5
1.6
24.6
7.5
iu/l
2.68
18
20
15
14
12.08
14.03
1.0
1.0
—
—
—
0
0
27
88
3.66
7.28
1.8
2.5
—
—
—
0
0
38
173
2.74
5.75
2.1
2.7
1.1
0.9
mg/l
0.20
29
127
17
57
3.30
4.32
23.8
12.7
—
1.2
—
0
8
38
198
2.34
4.20
3.4
3.4
7.4
7.4
ph
1.08
12
33
110
910
3.12
3.72
15.7
12.2
4.0
4.0
mmol/l
0.10
105
892
115
1003
3.55
3.52
13.4
9.1
—
—
—
0
0
23
103
2.52
3.49
3.0
1.8
—
—
—
0
0
69
483
1.99
3.39
4.9
6.3
6.5
6.6
mmol/l
0.16
62
463
34
190
2.09
3.08
2.0
1.6
103.2
97.9
pmol/l
0.17
19
102
41
248
1.98
2.99
2.0
2.2
—
—
—
0
0
64
454
1.86
2.86
9.0
9.1
0.0
0.0
e9/l
0.50
53
363
42
268
1.86
2.57
4.5
7.4
—
—
—
0
0
31
181
1.96
2.46
1.4
1.7
—
—
—
0
0
41
266
1.82
2.35
15.9
5.8
1.3
1.2
inr
0.37
15
79
30
176
1.93
2.34
1.4
1.6
—
—
—
0
0
32
192
1.90
2.34
1.9
2.3
0.5
0.6
ug/l
0.73
24
87
6
13
4.79
2.30
1.5
1.5
—
—
—
0
0
73
564
1.73
2.26
8.5
10.9
3.8
4.0
e9/l
0.24
65
495
66
498
1.71
2.21
5.2
7.2
0.6
0.6
e9/l
0.26
58
435
66
499
1.70
2.18
5.1
7.2
0.0
0.0
e9/l
0.08
58
436
7
19
3.84
2.18
4.1
2.8
88.0
93.8
ug/l
—
7
19
34
214
1.82
2.13
2.9
2.9
—
—
—
0
0
17
83
2.22
2.13
2.4
2.0
359.3
333.6
nmol/l
0.37
17
73
109
960
2.27
2.12
14.8
10.8
17.5
23.3
mg/l
1.53
83
705
67
512
1.68
2.10
5.3
7.4
1.9
2.0
e9/l
0.24
61
452
48
336
1.71
2.09
5.8
7.4
—
—
—
0
0
6
15
4.15
2.06
3.8
2.7
—
—
—
0
0
22
122
1.98
2.01
3.0
2.4
—
—
—
0
0
66
507
1.66
2.00
6.7
8.0
0.2
0.2
e9/l
0.87
60
449
65
499
1.65
1.96
3.4
3.4
—
—
—
0
0
5
11
4.69
1.96
2.0
1.7
1.5
1.7
mmol/l
—
5
11
6
16
3.89
1.96
3.0
2.4
23.3
24.4
mmol/l
—
6
16
6
17
3.65
1.86
1.7
1.5
—
—
—
0
0
5
12
4.29
1.84
1.2
1.0
—
—
—
0
0
22
126
1.91
1.83
1.4
1.6
—
—
—
0
0
32
211
1.70
1.69
3.1
3.0
0.4
0.3
e6/l
0.04
23
160
7
25
2.91
1.67
1.1
1.0
—
—
—
0
0
17
92
1.99
1.66
1.5
3.0
2.4
2.4
mmol/l
1.16
17
82
9
178
0.47
1.56
1.1
1.3
—
—
—
0
0
18
103
1.88
1.51
1.2
1.2
—
—
—
0
0
12
59
2.15
1.49
4.0
2.5
—
—
—
0
0
34
237
1.60
1.44
3.0
2.9
8.2
17.0
e6/l
0.77
25
184
16
93
1.83
1.28
1.3
1.7
—
—
—
0
0
22
143
1.66
1.22
3.5
2.8
28.9
1246.2
ng/l
1.03
15
98
7
30
2.41
1.14
1.3
3.3
—
—
—
0
0
25
171
1.58
1.14
4.6
2.8
—
—
—
0
0
36
268
1.49
1.13
3.4
3.4
156.3
71.6
e6/l
0.26
27
190
47
371
1.43
1.09
2.7
2.5
0.0
0.0
estimate
—
10
61
26
185
1.52
1.00
2.9
3.0
382.2
365.3
umol/l
0.35
21
164
28
203
1.49
0.99
2.4
2.0
—
—
—
0
0
15
224
0.62
0.91
1.4
1.3
—
—
—
0
0
63
537
1.36
0.89
3.7
2.9
—
—
—
0
0
45
365
1.37
0.87
3.6
3.6
0.0
0.0
estimate
0.00
11
70
45
365
1.37
0.87
2.8
2.5
0.0
0.0
estimate
0.00
11
65
8
46
1.79
0.84
1.0
1.2
—
—
—
0
0
6
32
1.92
0.83
1.8
1.2
—
—
—
0
0
14
90
1.63
0.82
2.1
2.0
—
—
—
0
0
25
185
1.44
0.80
3.6
2.7
0.0
0.0
estimate
0.49
11
65
15
99
1.59
0.80
1.4
1.2
0.8
2.9
u/ml
—
6
44
31
241
1.38
0.76
1.2
1.6
—
—
—
0
0
5
25
2.04
0.73
1.8
1.8
—
—
—
0
0
5
26
1.96
0.71
1.4
1.3
—
—
—
0
0
5
27
1.89
0.69
2.0
1.6
—
—
—
0
0
8
52
1.58
0.61
1.4
1.5
—
—
—
0
0
10
65
1.59
0.57
1.3
1.2
352.2
188.3
u/ml
—
10
59
6
39
1.57
0.54
1.3
1.2
—
—
—
0
0
6
40
1.53
0.52
10.8
21.2
—
—
—
0
0
26
211
1.30
0.49
3.5
5.1
—
—
—
0
0
29
239
1.28
0.49
1.9
1.6
2.4
2.3
g/l
0.13
15
143
31
258
1.27
0.48
1.4
1.5
0.5
2.4
u/ml
—
6
52
35
297
1.25
0.47
2.7
2.7
—
—
—
0
0
7
50
1.42
0.46
1.3
1.5
—
—
—
0
0
104
994
1.31
0.44
17.5
12.0
42.4
42.5
%
0.04
80
875
8
59
1.38
0.42
2.0
1.4
—
—
—
0
0
0
15
0.00
0.41
0.0
1.0
—
—
—
0
0
16
124
1.33
0.41
1.3
1.3
—
—
—
0
0
25
207
1.26
0.41
3.2
2.5
—
—
—
0
0
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
17
212
0.77
0.40
1.4
1.6
—
—
—
0
0
9
66
1.39
0.39
1.3
1.2
—
—
—
0
0
32
274
1.23
0.39
5.9
2.7
13.6
21.5
ng/l
0.91
18
147
5
36
1.41
0.38
1.4
1.3
—
—
—
0
0
35
396
0.84
0.34
3.3
2.3
—
—
—
0
0
24
203
1.23
0.33
8.1
4.9
—
—
—
0
0
7
53
1.34
0.31
4.7
4.4
—
—
—
0
0
5
39
1.29
0.23
1.4
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
6
49
1.24
0.20
1.0
1.0
—
—
—
0
0
12
105
1.16
0.11
10.8
9.5
25.5
25.2
mmol/l
0.16
12
105
15
167
0.88
0.11
2.9
2.9
—
1.0
—
0
13
10
86
1.18
0.11
3.2
4.5
—
—
—
0
0
10
114
0.87
0.10
10.7
8.1
—
—
—
0
0
7
65
1.08
0.08
9.4
17.6
141.0
130.3
g/l
—
7
60
7
68
1.03
0.08
3.6
1.8
2.0
0.9
g/l
—
7
63
8
91
0.87
0.07
3.5
3.0
10.3
9.9
g/l
—
8
84
18
169
1.08
0.05
3.1
2.9
—
—
—
0
0
12
128
0.93
0.03
3.1
2.2
—
—
—
0
0
12
113
1.07
0.02
5.8
6.9
—
—
—
0
0
13
131
0.99
0.00
2.9
2.7
—
—
—
0
0
13
131
0.99
0.00
3.2
2.7
—
—
—
0
0
10
97
1.03
0.00
4.1
2.9
—
—
—
0
0
13
132
0.98
0.00
3.4
2.7
—
—
—
0
0
5
53
0.94
0.00
1.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
168.0
—
0
8
7
73
0.96
0.00
9.4
16.1
95.9
96.3
%
—
7
68
0
6
0.00
0.00
0.0
1.0
—
5.4
—
0
6
5
50
1.00
0.00
1.6
13.1
—
—
—
0
0
0
7
0.00
0.00
0.0
5.4
—
9.8
—
0
7
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
2.3
—
1.6
—
0
7
0
5
0.00
0.00
0.0
1.6
—
9.2
—
0
5
8
84
0.95
0.00
7.3
14.5
5.2
5.3
kpa
—
8
77
0
5
0.00
0.00
0.0
8.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
1.7
—
0
6
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
9
0.00
0.00
0.0
1.8
—
—
—
0
0
8
88
0.90
0.00
10.4
4.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
12
120
1.00
0.00
3.1
2.9
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
451.4
—
0
5
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
8
84
0.95
0.00
7.1
14.5
14.3
12.9
kpa
—
8
77
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
8
82
0.97
0.00
2.0
1.3
—
—
—
0
0
10
100
1.00
0.00
1.3
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
14.8
—
—
—
0
0
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
32.6
—
0
7
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

↥

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

↥

Index endpoint: Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_MALE_PHENOT_NOT_ELSEW_CLASSIFIED – Other sex chromosome abnormalities, male phenotype, not elsewhere classified

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).